Nonclassic 21-Hydroxylase Deficiency
June 2006
in “
Fertility and Sterility
”
TLDR Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
Nonclassic 21-hydroxylase deficiency (NC21OHD) was identified as the most frequent autosomal recessive disorder in humans, particularly prevalent among Ashkenazi Jews, Hispanics, Slavs, and Italians. This mild form of congenital adrenal hyperplasia caused symptoms such as acne, short stature, hirsutism, and male-pattern hair loss in women, all reversible with proper treatment. The disorder led to decreased fertility but was easily treatable, with symptoms improving in as little as three months. Early treatment in children could improve adult height, eliminate acne, and normalize puberty. Extensive research led to the identification and cloning of the gene responsible for 21OHD, and new treatments were introduced, including prenatal interventions to prevent female genital masculinization in severe cases.
